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PWS total score by demographic and baseline clinical characteristics.

Figshare2017-12-16 更新2026-04-29 收录

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https://figshare.com/articles/dataset/PWS_total_score_by_demographic_and_baseline_clinical_characteristics_/5707249 数据链接链接失效反馈

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资源简介：

PWS total score by demographic and baseline clinical characteristics.

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创建时间：

2017-12-16

遗传综合征表型分析

Xq22.3基因缺失研究

Alport syndrome with intellectual disability (ATS-ID), also known as AMME complex (OMIM #300194), is an X-linked contiguous gene deletion syndrome associated with an Xq22.3 locus mainly characterized

NIAID Data Ecosystem60

Additional file 1 of Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome

遗传综合征表型分析

罕见病临床数据

Additional file 1: Data S1. Cohort 1.

Figshare2024-02-19 更新50

Additional file 4 of Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome

遗传综合征表型分析

罕见病临床数据

Additional file 4: Data S4. Literature patients.

Figshare2024-02-13 更新30

Supplementary Material for: Noonan Syndrome: Comparing Mutation-Positive with Mutation-Negative Dutch Patients

遗传综合征表型分析

RAS-MAPK通路突变关联

Noonan syndrome (NS) is an autosomal dominant disorder characterized by facial dysmorphisms, short stature and congenital heart defects. The disorder is genetically heterogeneous and shows clinical ov

Figshare2017-06-20 更新50

Additional file 1 of Prospective and detailed behavioral phenotyping in DDX3X syndrome

遗传综合征表型分析

神经发育障碍

Additional file 1: Table S1. DDX3X variants in the cohort. Table S2: Individual scores on neuropsychological evaluation. Table S3: Medical comorbidities. Table S4: Brain MRI findings. Table S5: Neurol

Figshare2021-05-16 更新40

PWS total score by demographic and baseline clinical characteristics.

资源简介：

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